E2F1 — 50 ClinVar variants
All ClinVar germline E2F1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 35 flagged for review →
8 Benign · 8 Likely benign · 34 Uncertain significance
Full E2F1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 35
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 20
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- E2F1 p.Ala379Val Uncertain significance Single submitter
- E2F1 p.Ala408Asp Uncertain significance Single submitter
- E2F1 p.Ala78Ser Uncertain significance Single submitter
- E2F1 p.Arg373Cys Uncertain significance Single submitter
- E2F1 p.Glu103Lys Uncertain significance Single submitter
- E2F1 p.Glu320Lys Uncertain significance Single submitter
- E2F1 p.Gly23Ser Uncertain significance Single submitter
- E2F1 p.Gly5Arg Uncertain significance Single submitter
- E2F1 p.Ile35Leu Uncertain significance Single submitter
- E2F1 p.Ile400Phe Uncertain significance Single submitter
- E2F1 p.Met263Leu Uncertain significance Single submitter
- E2F1 p.Pro58Ser Uncertain significance Single submitter
- E2F1 p.Pro61Arg Uncertain significance Single submitter
- E2F1 p.Pro76Ser Uncertain significance Single submitter
- E2F1 p.Ser193Arg Uncertain significance Single submitter
- E2F1 p.Ser318Thr Uncertain significance Single submitter
- E2F1 p.Ser382Leu Uncertain significance Single submitter
- E2F1 p.Ser77Arg Uncertain significance Single submitter
- E2F1 p.Thr343Ile Uncertain significance Single submitter
-
E2F1 p.Arg166His
Uncertain significance
No assertion criteria
prostate cancer
Predictors split 15
The independent predictors disagree with each other — read with care.
- E2F1 p.Val276Met Benign Multiple submitters
- E2F1 p.Ala53Val Uncertain significance Single submitter
- E2F1 p.Ala67Pro Uncertain significance Single submitter
- E2F1 p.Ala6Thr Uncertain significance Single submitter
- E2F1 p.Arg242Cys Uncertain significance Single submitter
- E2F1 p.Asp381Asn Uncertain significance Single submitter
- E2F1 p.Gln230Glu Uncertain significance Single submitter
- E2F1 p.Glu141Gly Uncertain significance Single submitter
- E2F1 p.Gly21Arg Uncertain significance Single submitter
- E2F1 p.Phe399Leu Uncertain significance Single submitter
- E2F1 p.Pro292Arg Uncertain significance Single submitter
-
E2F1 p.Pro396Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- E2F1 p.Pro87Ser Uncertain significance Single submitter
- E2F1 p.Ser121Tyr Uncertain significance Single submitter
- E2F1 p.Ser240Ile Uncertain significance Single submitter
All E2F1 variants
Benign 8
- p.Thr49= Multiple submitters
- p.Val276Met Multiple submitters ⚠
- p.Ala78= Single submitter
- p.Cys12Ser Single submitter
- c.*5G>T No assertion criteria E2F1-related disorder
- p.Gly200Ser No assertion criteria E2F1-related disorder
- p.Gly393Ser No assertion criteria E2F1-related disorder
- p.Thr247= No assertion criteria E2F1-related disorder
Likely benign 8
- p.Ala102Thr Multiple submitters
- p.Ser37= Multiple submitters
- c.261+10C>T Single submitter
- p.Ala275= Single submitter
- p.Ser392= Single submitter
- p.Leu415= No assertion criteria E2F1-related disorder
- p.Phe413= No assertion criteria E2F1-related disorder
- p.Pro339= No assertion criteria E2F1-related disorder
Uncertain significance 34
- p.Ala379Val Single submitter ⚠
- p.Ala408Asp Single submitter ⚠
- p.Ala53Val Single submitter ⚠
- p.Ala67Pro Single submitter ⚠
- p.Ala6Thr Single submitter ⚠
- p.Ala78Ser Single submitter ⚠
- p.Arg242Cys Single submitter ⚠
- p.Arg373Cys Single submitter ⚠
- p.Asp381Asn Single submitter ⚠
- p.Gln230Glu Single submitter ⚠
- p.Glu103Lys Single submitter ⚠
- p.Glu141Gly Single submitter ⚠
- p.Glu320Lys Single submitter ⚠
- p.Gly21Arg Single submitter ⚠
- p.Gly23Ser Single submitter ⚠
- p.Gly5Arg Single submitter ⚠
- p.Ile35Leu Single submitter ⚠
- p.Ile400Phe Single submitter ⚠
- p.Met263Leu Single submitter ⚠
- p.Phe399Leu Single submitter ⚠
- p.Pro292Arg Single submitter ⚠
- p.Pro396Arg Single submitter Inborn genetic diseases ⚠
- p.Pro58Ser Single submitter ⚠
- p.Pro61Arg Single submitter ⚠
- p.Pro76Ser Single submitter ⚠
- p.Pro87Ser Single submitter ⚠
- p.Ser121Tyr Single submitter ⚠
- p.Ser193Arg Single submitter ⚠
- p.Ser240Ile Single submitter ⚠
- p.Ser318Thr Single submitter ⚠
- p.Ser382Leu Single submitter ⚠
- p.Ser77Arg Single submitter ⚠
- p.Thr343Ile Single submitter ⚠
- p.Arg166His No assertion criteria prostate cancer ⚠